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Topic Review
Healthy Live Births after Transfer of Mosaic Embryos
The implementation of next generation sequencing (NGS) in preimplantation genetic testing for aneuploidy (PGT-A) has led to a higher prevalence of mosaic diagnosis within the trophectoderm (TE) sample. Regardless, mosaicism could potentially increase the rate of live-born children with chromosomic syndromes, though available data from the transfer of embryos with putative PGT-A mosaicism are scarce but reassuring. Even with lower implantation and higher miscarriage rates, mosaic embryos can develop into healthy live births. Therefore, this urges an explanation for the disappearance of aneuploid cells throughout development, to provide guidance in the management of mosaicism in clinical practice. Technical overestimation of mosaicism, together with some sort of “self-correction” mechanisms during the early post-implantation stages, emerged as potential explanations. Unlike the animal model, in which the elimination of genetically abnormal cells from the future fetal lineage has been demonstrated, in human embryos this capability remains unverified even though the germ layer displays an aneuploidy-induced cell death lineage preference with higher rates of apoptosis in the inner cell mass (ICM) than in the TE cells.
  • 843
  • 29 Feb 2024
Topic Review
NcRNAs/Splicing Activity in TGCTs
Testicular germ cell tumors (TGCTs) are the most common tumors in adolescent and young men. Recently, genome-wide studies have made it possible to progress in understanding the molecular mechanisms underlying the development of tumors. It is becoming increasingly clear that aberrant regulation of RNA metabolism can drive tumorigenesis and influence chemotherapeutic response. Notably, the expression of non-coding RNAs as well as specific splice variants is deeply deregulated in human cancers. Since these cancer-related RNA species are considered promising diagnostic, prognostic and therapeutic targets, understanding their function in cancer development is becoming a major challenge.
  • 843
  • 05 Aug 2021
Topic Review
Nonsyndromic Holoprosencephaly
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face.
  • 842
  • 24 Dec 2020
Topic Review
CLN7 Disease
CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.
  • 842
  • 24 Dec 2020
Topic Review
ABCG5 Gene
ATP binding cassette subfamily G member 5
  • 842
  • 24 Dec 2020
Topic Review
Poikiloderma with Neutropenia
Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system.
  • 842
  • 24 Dec 2020
Topic Review
HLRCC
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
  • 841
  • 23 Dec 2020
Topic Review
NF1 Gene
neurofibromin 1
  • 841
  • 23 Dec 2020
Topic Review
ZFP57 Gene
ZFP57 zinc finger protein
  • 841
  • 24 Dec 2020
Topic Review
Cushing Disease
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms.
  • 841
  • 24 Dec 2020
Topic Review
X-linked Dilated Cardiomyopathy
X-linked dilated cardiomyopathy is a form of heart disease.
  • 841
  • 24 Dec 2020
Topic Review
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
  • 841
  • 24 Dec 2020
Topic Review
FOXL2-Related Epicanthus Inversus Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. 
  • 841
  • 16 Mar 2021
Topic Review
Hyperprolinemia
Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.
  • 840
  • 23 Dec 2020
Topic Review
Treacher Collins Syndrome
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face.
  • 840
  • 23 Dec 2020
Topic Review
Narcolepsy
Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.
  • 840
  • 23 Dec 2020
Topic Review
Complete LCAT Deficiency
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.
  • 840
  • 24 Dec 2020
Topic Review
PPT1 Gene
palmitoyl-protein thioesterase 1
  • 840
  • 25 Dec 2020
Topic Review
Hartsfield Syndrome
Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.
  • 839
  • 23 Dec 2020
Topic Review
Familial Hyperaldosteronism
Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
  • 839
  • 25 Dec 2020
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